Volume 95; Issue 1

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Human Genetics
Volume 95; Issue 1

Human Genetics

Volume 95; Issue 1

1

Anorexia nervosa viewed as an extreme weight condition: genetic implications

Johannes Hebebrand, Helmut Remschmidt

Journal:

Year:

1995

Language:

english

File:

PDF, 1.13 MB

english, 1995

2

Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y

Franck Pellestor, Anne Girardet, Geneviève Lefort, Brigitte Andréo, Jean Paul Charlieu

Journal:

Year:

1995

Language:

english

File:

PDF, 4.32 MB

english, 1995

3

Positional cloning of cDNAs from the human chromosome 3p21–22 region identifies a clustered organization of zinc-finger genes

Viola Calabrò, Gina Pengue, Paola Cannada Bartoli, Alfredo Pagliuca, Terence Featherstone, Luigi Lania

Journal:

Year:

1995

Language:

english

File:

PDF, 787 KB

english, 1995

4

ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region

Roland Toder, Gudrun A. Rappold, Katrin Schiebel, Werner Schempp

Journal:

Year:

1995

Language:

english

File:

PDF, 3.14 MB

english, 1995

5

Multi-PRINS: multiple sequential oligonucleotide primed in situ DNA synthesis reactions label specific chromosomes and produce bands

E. J. M. Speel, Diane Lawson, A. H. N. Hopman, John Gosden

Journal:

Year:

1995

Language:

english

File:

PDF, 2.06 MB

english, 1995

6

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28

Michaela Rathmann, Susanna Bunge, Cordula Steglich, Eberhard Schwinger, Andreas Gal

Journal:

Year:

1995

Language:

english

File:

PDF, 610 KB

english, 1995

7

Apolipoprotein E (apoE) polymorphism and its influence on ApoE concentrations in the cerebrospinal fluid in Finnish patients with Alzheimer's disease

Terho Lehtimäki, Tuula Pirttilä, Pankaj D. Mehta, Henryk M. Wisniewski, Harry Frey, Tapio Nikkari

Journal:

Year:

1995

Language:

english

File:

PDF, 417 KB

english, 1995

8

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions

David J. Bunyan, John A. Crolla, Amanda L. Collins, David O. Robinson

Journal:

Year:

1995

Language:

english

File:

PDF, 269 KB

english, 1995

9

High frequency of the apo ɛ4 allele in Khoi San from South Africa

C. Sandholzer, Rhena Delport, Hayward Vermaak, G. Utermann

Journal:

Year:

1995

Language:

english

File:

PDF, 331 KB

english, 1995

10

High resolution mid-prophase human chromosomes induced by echinomycin and ethidium bromide

Jeffrey R. Sawyer

Journal:

Year:

1995

Language:

english

File:

PDF, 880 KB

english, 1995

11

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

E. C. M. Mariman, S. E. C. Beersum, C. W. R. J. Cremers, P. M. Struycken, H. H. Ropers

Journal:

Year:

1995

Language:

english

File:

PDF, 503 KB

english, 1995

12

XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene

Angela S. Barbosa, Thaís E. Ferraz-Costa, Mauro Semer, Bernardo Liberman, Carlos A. Moreira-Filho

Journal:

Year:

1995

Language:

english

File:

PDF, 563 KB

english, 1995

13

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)

Wolfgang Berger, Gerard Duijnhoven, Alfred Pinckers, Arie Smits, Hans-Hilger Ropers, Frans Cremers

Journal:

Year:

1995

Language:

english

File:

PDF, 312 KB

english, 1995

14

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

Rachel E. McGuire, Alexandra M. Gannon, Lori S. Sullivan, Joseph A. Rodriguez, Stephen P. Daiger

Journal:

Year:

1995

Language:

english

File:

PDF, 344 KB

english, 1995

15

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

R. B. Blok, D. R. Thorburn, G. N. Thompson, H.-H. M. Dahl

Journal:

Year:

1995

Language:

english

File:

PDF, 1004 KB

english, 1995

16

Isolation and characterization of a cosmid contig for the GCPS gene region

Andrea Vortkamp, Christiane Heid, Manfred Gessler, Karl-Heinz Grzeschik

Journal:

Year:

1995

Language:

english

File:

PDF, 888 KB

english, 1995

17

Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses

Siobhan Loughna, Phillip Bennett, Gudrun Moore

Journal:

Year:

1995

Language:

english

File:

PDF, 766 KB

english, 1995

18

Assignment of the developmentally regulated gene NEDD1 to human chromosome 12q22 by fluorescence in situ hybridization

S. Takai, Y. Yoshida, M. Noda, K. Yamada, S. Kumar

Journal:

Year:

1995

Language:

english

File:

PDF, 616 KB

english, 1995

19

The human interleukin-10 receptor gene maps to chromosome 11q23.3

Tadayoshi Taniyama, Setsuo Takai, Emi Miyazaki, Ryutaro Fukumura, Junko Sato, Yoshiro Kobayashi, Tadashi Hirakawa, Kevin W. Moore, Kiyomi Yamada

Journal:

Year:

1995

Language:

english

File:

PDF, 603 KB

english, 1995

20

Association between coronary heart disease and the apolipoprotein A-I/C-III/A-IV complex in a Japanese population

Huai Bai, Keijiro Saku, Rui Liu, Mitsuhide Imamura, Kikuo Arakawa

Journal:

Year:

1995

Language:

english

File:

PDF, 314 KB

english, 1995

21

Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families

Yasushi Isashiki, Norio Ohba, Toyoko Yanagita, Naoko Hokita, Norihito Doi, Masanori Nakagawa, Masayuki Ozawa, Noriko Kuroda

Journal:

Year:

1995

Language:

english

File:

PDF, 566 KB

english, 1995

22

Characterization of a splicing mutation in the factor VIII gene at the RNA level

Dezsö David, Alice Tavares, Joao Lavinha

Journal:

Year:

1995

Language:

english

File:

PDF, 278 KB

english, 1995

23

PKU in Slovakia: mutation screening and haplotype analysis

Ludovit Kádasi, Helena Poláková, Eva Feráková, Soňa Hudecová, Táňa Bohušová, Ildiko Szomolayová, Jaroslava Strnová, Ivan Hruškovič, Nicholas K. Moschonas, Vladimír Ferák

Journal:

Year:

1995

Language:

english

File:

PDF, 172 KB

english, 1995

24

Failure to detect Glut4-Ile383and IR-Gln1152variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population

Laura Esposito, Paola Carrera, Antonio Ettore Pontiroli, Maurizio Ferrari

Journal:

Year:

1995

Language:

english

File:

PDF, 204 KB

english, 1995

25

Trisomy 21 and maternal age of menopause: does reproductive age rather than chronological age influence risk of nondisjunction?

Owen P. Phillips, Shirley Cromwell, Marian Rivas, Joe Leigh Simpson, Sherman Elias

Journal:

Year:

1995

Language:

english

File:

PDF, 136 KB

english, 1995

26

Five new microsatellite polymorphisms at the q21 region of human chromosome 21

Assumpció Bosch, Stefan Wiemann, Jordi Guimerá, Wilhelm Ansorge, David Patterson, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 263 KB

english, 1995

27

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

Barbara Lüdecke, Bernd Dworniczak, Klaus Bartholomé

Journal:

Year:

1995

Language:

english

File:

PDF, 219 KB

english, 1995

28

Editorial help

Journal:

Year:

1995

File:

PDF, 71 KB

1995